Mutations in the genes for oocyte-derived growth factors GDF9 and BMP15 are associated with both increased ovulation rate and sterility in Cambridge and Belclare sheep (Ovis aries)
Mutations in the genes for oocyte-derived growth factors GDF9 and BMP15 are associated with both increased ovulation rate and sterility in Cambridge and Belclare sheep (Ovis aries)
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DOI：
10.1095/biolreprod.103.023093
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发表时间：
2004-04-01
影响因子：
3.6
通讯作者：
Galloway, SM
中科院分区：
文献类型：
--
作者：
Hanrahan, JP;Gregan, SM;Galloway, SM
Belclare和剑桥是多产的绵羊品种，其起源涉及选择母羊与商业羊群非常高的产仔记录。两个品种中排卵率的变化与对该性状有很大影响的一个（或多个）基因的分离一致。不育母羊，由于一个失败的正常卵泡发育，发生在两个品种。描述了卵母细胞衍生生长因子生长分化因子9（GDF 9）和骨形态发生蛋白15（BMP 15）基因中新的天然突变。在两个品种中，这些突变与杂合子携带者的排卵率增加和纯合子携带者的不育有关。这是第一次发现GDF9基因的突变，这种突变以类似于BMP 15失活突变的方式导致排卵率增加和不育，并表明GDF9对绵羊的正常卵泡发育至关重要。此外，在任何物种中首次显示，在GDF9和BMP 15中具有突变的个体比单独具有任一突变的绵羊具有更高的排卵率。
Belclare and Cambridge are prolific sheep breeds, the origins of which involved selecting ewes with exceptionally high litter size records from commercial flocks. The variation in ovulation rate in both breeds is consistent with segregation of a gene (or genes) with a large effect on this trait. Sterile ewes, due to a failure of normal ovarian follicle development, occur in both breeds. New naturally occurring mutations in genes for the oocyte-derived growth factors growth differentiation factor 9 (GDF9) and bone morphogenetic protein 15 (BMP15) are described. These mutations are associated with increased ovulation rate in heterozygous carriers and sterility in homozygous carriers in both breeds. This is the first time that a mutation in the gene for GDF9 has been found that causes increased ovulation rate and infertility in a manner similar to inactivating mutations in BMP15, and shows that GDF9 is essential for normal folliculogenesis in sheep. Furthermore, it is shown, for the first time in any species, that individuals with mutations in both GDF9 and BMP15 have a greater ovulation rate than sheep with either of the mutations separately.